PMID- 14735589
OWN - NLM
STAT- MEDLINE
DCOM- 20040916
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 124A
IP  - 4
DP  - 2004 Feb 1
TI  - Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 
      and neighbor genes on chromosome 13q14.
PG  - 397-401
AB  - We report on a 10-year-old boy with a normal karyotype and a chromosome 13q14 
      deletion of the retinoblastoma gene (RB1) by fluorescence in situ hybridization 
      (FISH). He showed subtle signs of overgrowth, including macrocephaly, 
      hepatomegaly, and inguinal hernia. The boy also had cryptorchism and mild 
      developmental delay. In his first months of life, variant Wiedemann-Beckwith 
      syndrome was tentatively suspected and he was included in a careful tumor 
      prevention program. At the age of 11 months, bifocal retinoblastoma of the left 
      eye was diagnosed. Pinealoma was suspected at the age of 19 months and was 
      removed by neurosurgery at the age of 29 months. At 4 years and 4 months, the 
      deletion of the RB1 gene was suspected on clinical grounds and was diagnosed by 
      FISH and molecular studies. At that time, he was a near-normal healthy playful 
      kindergarten child, height 107 cm (-0.3 SD), OFC 52.5 cm (+0.8 SD), developmental 
      age 3-3.5 years. The combination of retinoblastoma, pinealoma, and deletion of 
      the RB1 gene diagnosed by FISH has not been reported previously. The deletion 
      spans at least 370-420 kb in size and is predicted to include proximal and distal 
      neighbor genes. This report may assist in establishing the clinical signs of the 
      contiguous gene syndrome at the RB1 locus on 13q14.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Skrypnyk, Cristina
AU  - Skrypnyk C
AD  - Institute of Clinical Genetics, Dresden University of Technology, Fetscherstrasse 
      74, D-01307 Dresden, Germany.
FAU - Bartsch, Oliver
AU  - Bartsch O
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Brain Neoplasms/*diagnosis
MH  - Child
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 13
MH  - Gene Deletion
MH  - Genes, Retinoblastoma
MH  - Growth Disorders/*diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - *Pineal Gland
MH  - Pinealoma/*diagnosis
MH  - Retinal Neoplasms/*diagnosis/genetics
MH  - Retinoblastoma/*diagnosis/genetics
MH  - Williams Syndrome/genetics
EDAT- 2004/01/22 05:00
MHDA- 2004/09/17 05:00
CRDT- 2004/01/22 05:00
PHST- 2004/01/22 05:00 [pubmed]
PHST- 2004/09/17 05:00 [medline]
PHST- 2004/01/22 05:00 [entrez]
AID - 10.1002/ajmg.a.20410 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Feb 1;124A(4):397-401. doi: 10.1002/ajmg.a.20410.